ATM c.1247C>A ;(p.A416E)

Variant ID: 11-108121439-C-A

NM_000051.3(ATM):c.1247C>A;(p.A416E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04

Variant appearance in text: ATM: 1247C>A; A416E
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page



Mutations driving CLL and their evolution in progression and relapse.

Nature
Landau, Dan A DA; Tausch, Eugen E; Taylor-Weiner, Amaro N AN; Stewart, Chip C; Reiter, Johannes G JG; Bahlo, Jasmin J; Kluth, Sandra S; Bozic, Ivana I; Lawrence, Mike M; Böttcher, Sebastian S; Carter, Scott L SL; Cibulskis, Kristian K; Mertens, Daniel D; Sougnez, Carrie L CL; Rosenberg, Mara M; Hess, Julian M JM; Edelmann, Jennifer J; Kless, Sabrina S; Kneba, Michael M; Ritgen, Matthias M; Fink, Anna A; Fischer, Kirsten K; Gabriel, Stacey S; Lander, Eric S ES; Nowak, Martin A MA; Döhner, Hartmut H; Hallek, Michael M; Neuberg, Donna D; Getz, Gad G; Stilgenbauer, Stephan S; Wu, Catherine J CJ
Publication Date: 2015-10-22

Variant appearance in text: ATM: 1247C>A; A416E
PubMed Link: 26466571
Variant Present in the following documents:
  • NIHMS715090-supplement-Supplementary_Table_3.xlsx, sheet 1
View BVdb publication page